ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2496C>T (p.Ala832=)

gnomAD frequency: 0.00013  dbSNP: rs553994940
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000908438 SCV001053201 likely benign Multiple gastrointestinal atresias 2024-08-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413721 SCV004146063 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing TTC7A: BP4, BP7

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